江苏地区3591例捐精者染色体核型分析结果与意义
作者:
作者单位:

1.南京医科大学第一附属医院人类精子库,江苏 南京 210029 ;2.苏州市立医院生殖与遗传中心,江苏 苏州 215002 ;3.南京医科大学康本检验所,江苏 南京 211112

基金项目:

江苏省科教能力提升工程项目(ZDXK202219)


Results and significance of chromosomal karyotype analysis of 3591 sperm donors in Jiangsu Province
Author:
Affiliation:

1.Human Sperm Bank,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029 ;2.Center for Reproduction and Genetics,Suzhou Municipal Hospital,Suzhou 215002 ;3.Kangben Laboratory,Nanjing Medical University,Nanjing 211112 ,China

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    摘要:

    目的:分析南京医科大学附属第一医院精子库10余年来捐精志愿者者染色体遗传学特征,探讨精子库染色体核型分析在避免供精治疗后不良妊娠结局中的作用。方法:回顾性统计2012年1月—2023年12月于南京医科大学附属第一医院人类精子库进行供精筛选的捐精者共计3 591例的染色体检查结果,分类染色体核型异常分布与类型。结果:3 591例捐精志愿者中,染色体核型出现异常者共62例(1.73%),其中最常见的为臂间倒位(30/62),其次为次缢痕区加长(13/62),再次为染色体短臂加长(7/62)、染色体易位(6/62)。此外,还有随体加长3例,双随体1例,着丝粒增大1例,标记染色体1例。结论:鉴于核型异常对妊娠结局与子代健康已知或潜在的不良影响,精子库必须对捐精志愿者进行严格的细胞遗传学筛查,以规避后续供精治疗的失败风险,达到助孕优生的社会作用。

    Abstract:

    Objective:To analyze the genetic characteristics of chromosomes of sperm donor volunteers in human sperm bank of the First Affiliated Hospital of Nanjing Medical University,for more than ten years,and to explore the role of sperm bank chromosomal karyotypes analysis and screening in avoiding adverse pregnancy outcomes after sperm donor treatment. Methods:The chromosomal karyotypes examination results of 3 591 sperm donors,who underwent sperm screening at the Human Sperm Bank of the First Affiliated Hospital of Nanjing Medical University from January 2012 to December 2023,were retrospectively analyzed to classify the distribution and types of chromosomal karyotypes abnormalities. Results:Among the 3 591 sperm donors,there were 62 cases of karyotype abnormalities,accounting for 1.73% of all volunteers,of which the most common were pericentric inversions(30/62),followed by secondary constriction region enlargement(13/62),and then short-arm enlargement(7/62)and translocation(6/62). In addition to this, there were 3 cases of satellite enlargement,1 case of double enlargement,1 case of enlarged centromere,and 1 case of marker chromosome. Conclusion:In view of the known or potential adverse effects of karyotype abnormalities on pregnancy outcomes and offspring health,sperm banks are required to conduct rigorous cytogenetic screening of sperm donor volunteers to circumvent the risk of failure of subsequent sperm donor treatments and to fulfil the societal role of assisted conception and eugenics.

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林法喜,王家雄,闫静,孙红勇,王增军.江苏地区3591例捐精者染色体核型分析结果与意义[J].南京医科大学学报(自然科学版),2025,(3):295-300,326

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  • 收稿日期:2024-08-13
  • 在线发布日期: 2025-03-17
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